A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005289



Internal ID18747820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:12269..88678hg38UCSC Ensembl
Innerchr4:12269..88566hg19UCSC Ensembl
Innerchr4:2269..78566hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3876410
hg1976298
hg1876298
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5057n100
Supporting Variantsnssv3615191
Samples
Known GenesZNF595, ZNF718
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005289
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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